Annotation Detail

Information
Associated Genes
LTBP1 TTC27 BIRC6 LINC00486 MIR558 LOC100271832 MIR4765 BIRC6-AS2 LOC112840924 LOC112840925 LOC122756687 LOC126806184 LOC129933459 LOC129933460 LOC129933461 LOC129933462 LOC132088840
Associated Variants
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3
Source Database
ClinVar
Description
GRCh38/hg38 2p22.3(chr2:32452646-33032447)x3 AND See cases
ClinVar Allele ID
40632
Clinical Significance Description
Conflicting interpretations of pathogenicity
Clinical Significance Last Update
2013-06-25
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000050870
Observed Origin Sample
not provided
Observed Origin Sample
maternal
Observed Origin Sample
paternal
Drugs